A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16 (Q24535681)

4 July 2017

title

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16 (English)

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4 July 2017

main subject

linkage disequilibrium

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4

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Mark Joseph Daly

2

object named as

M J Daly

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4 July 2017

4

E S Lander

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4 July 2017

N Lee

1

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4 July 2017

T Delmonte

3

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4 July 2017

F Xu

5

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4 July 2017

T J Hudson

6

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4 July 2017

G A Mitchell

7

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4 July 2017

C C Morin

8

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B H Robinson

9

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4 July 2017

J D Rioux

10

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4 July 2017

language of work or name

English

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publication date

10 January 2001

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American Journal of Human Genetics

4 July 2017

published in

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4 July 2017

volume

68

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4 July 2017

issue

2

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4 July 2017

page(s)

397-409

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Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

4 July 2017

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A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

24 March 2017

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

24 March 2017

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Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

24 March 2017

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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

24 March 2017

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Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

24 March 2017

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Isolation of estrogen-responsive genes with a CpG island library

24 March 2017

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Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians

24 March 2017

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

24 March 2017

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Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat

24 March 2017

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A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I

24 March 2017

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Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33.

24 March 2017

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Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

24 March 2017

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

27 September 2017

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27 September 2017

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Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase

27 September 2017

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Identification of an additional member of the cytochrome c oxidase subunit VIIa family of proteins

27 September 2017

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27 September 2017

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Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

27 September 2017

1 reference

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A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec

27 September 2017

1 reference

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DNA purification and isolation using a solid-phase

27 September 2017

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Variability of the genetic contribution of Quebec population founders associated to some deleterious genes.

27 September 2017

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27 September 2017

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Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency

27 September 2017

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Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

30 May 2018

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Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome

28 July 2018

1 reference

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Subacute Necrotizing Encephalomyelopathy (Leigh's Disease): a Consideration of Clinical Features and Etiology

29 November 2018

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Prospects for whole-genome linkage disequilibrium mapping of common disease genes

29 November 2018

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12 December 2020

Manganese superoxide dismutase levels are elevated in a proportion of amyotrophic lateral sclerosis patient cell lines

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Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada)

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12 December 2020

Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec

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12 December 2020

Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac-Saint-Jean (Quebec, Canada)

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12 December 2020

Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc

1 reference

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One founder/one gene hypothesis in a new expanding population: Saguenay (Quebec, Canada)

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12 December 2020

Fine mapping of low-density lipoprotein receptor gene by genetic linkage on chromosome 19p13.1-p13.3 and study of the founder effect of four French Canadian low-density lipoprotein receptor gene mutations

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Identifiers

DOI

10.1086/318197

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4 July 2017

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4 July 2017

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